WYMM Tour: Barcelona
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22 February 2024, 10:00 - 16:45 CET - Barcelona, Spain
Generate ultra-rich data for answers with impact.
Who says you can’t see it all? With a comprehensive view of structural variants and methylation, nanopore technology powers the bigger and bolder research questions you’ve always wanted to ask.
Join us on Thursday 22nd February 2024 in Barcelona to hear from local experts who are breaking new ground in human genomics, using nanopore technology.
What you're missing matters. Stay on top of what's next.
Aside from talks ranging from human genomics for rare disease, to sequencing for cancer research, the full-day agenda will include networking breaks, Q&A, product displays, and opportunities to engage with your peers and nanopore experts.
Please note that this is an in-person event.
There is no delegate fee for this event, but registration is required. Lunch and refreshments will be provided. Your place at this event will be confirmed via email from events@nanoporetech.com.
Agenda
10:00 – 18:00 hrs CET | Agenda (subject to change) | |
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10:00 – 10:45 hrs | Registration, breakfast and networking | |
10:45 – 11:10 hrs | What you're missing matters: Catching the unnoticed | Tonya McSherry, Oxford Nanopore Technologies |
11:10 – 11:35 hrs | Bridging the diagnostic gap by long read sequencing | Joris Vermeesch, Laboratory of Cytogenetics and Genome Research |
11:35 – 12:00 hrs | Nanopore-based analysis of cell-free DNA: clinical implications for the management of colorectal cancer | Filippo Martignano, Institute for the Study and Prevention of Cancer (ISPRO) |
12:00 – 13:30 hrs | Lunch | |
13:30 – 13:55 hrs | Oxford Nanopore Technologies bioinformatics update | Dan Fordham, Oxford Nanopore Technologies |
13:55 – 14:20 hrs | Decoding the epitranscriptome and its dynamics at single molecule resolution | Eva Maria Novoa, Center for Genomic Regulation (CRG) |
14:20– 14:45 hrs | Rapid adult’s nephrogenomics | Laurent Mesnard, APHP Sorbonne Université |
14:45 – 15:45 hrs | Networking session | |
15:45 – 16:05 hrs | Panel discussion: The future of nanopore sequencing in clinical research | Moderated by Christophe Fleury, Oxford Nanopore Technologies |
16:05 – 16:35 hrs | Nanopore sequencing of the human mitochondrial and other genomes | Ivo Gut, CNAG |
16:35 – 16:45 hrs | Closing remarks | Oxford Nanopore Technologies |
16:45 – 18:00 hrs | Drinks reception |
Speakers
Despite the implementation of massive parallel sequencing as standard of care, about half of patients with developmental disorders (DD) remain without genetic diagnosis. Structural and epigenetic variants have long been known to be involved in the pathogenesis of DD but remain challenging to map due to technological limitations. However, with dropping costs and increasing accuracy of long read sequencing (LRS) platforms, the concomitant assessment of single nucleotide, structural and epigenetic variation becomes feasible. I will present our data on the technical and analtyical pipelines we developed and implemented to assess structural and methylation variation across the genome. I will show how ONT long read sequencing enables the detection of disease-causing, hitherto unidentified SV and provides a comprehensive genomic view.
Despite the implementation of massive parallel sequencing as standard of care, about half of patients with developmental disorders (DD) remain without genetic diagnosis. Structural and epigenetic variants have long been known to be involved in the pathogenesis of DD but remain challenging to map due to technological limitations. However, with dropping costs and increasing accuracy of long read sequencing (LRS) platforms, the concomitant assessment of single nucleotide, structural and epigenetic variation becomes feasible. I will present our data on the technical and analtyical pipelines we developed and implemented to assess structural and methylation variation across the genome. I will show how ONT long read sequencing enables the detection of disease-causing, hitherto unidentified SV and provides a comprehensive genomic view.
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Joris Vermeesch, Laboratory of Cytogenetics and Genome ResearchIn a single experiment, Nanopore native DNA sequencing allows the assessment of different kinds of biomarkers from liquid biopsy samples, including Copy Number Alterations, Methylation and Fragmentomic profiles. Individually, these analyses have proven useful in diverse contexts of cancer management: from patient stratification to diagnostic purposes. In this study, we delve into the potential of non-invasive Nanopore characterization in a preliminary case series of advanced colorectal cancer patients, with a focus on survival analysis.
In a single experiment, Nanopore native DNA sequencing allows the assessment of different kinds of biomarkers from liquid biopsy samples, including Copy Number Alterations, Methylation and Fragmentomic profiles. Individually, these analyses have proven useful in diverse contexts of cancer management: from patient stratification to diagnostic purposes. In this study, we delve into the potential of non-invasive Nanopore characterization in a preliminary case series of advanced colorectal cancer patients, with a focus on survival analysis.
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Filippo Martignano, Institute for the Study and Prevention of Cancer (ISPRO)The dynamic deposition of chemical modifications into RNA is a crucial regulator of temporal and spatial accurate gene expression programs. A major difficulty in studying these modifications, however, is the need of tailored protocols to map each RNA modification individually. In this context, direct RNA nanopore sequencing (DRS) has emerged as a promising technology that can overcome these limitations, as it is in principle capable of mapping all RNA modifications simultaneously, in a quantitative manner, and in full-length native RNA reads. Here I will present the latest work on how we can use DRS to identify RNA modifications with single nucleotide and single molecule resolution, to then study the biological functions and dynamics of the epitranscriptome, their interplay with other regulatory layers, as well as to decipher how and why epitranscriptomic dysregulation is often associated to human disease.
The dynamic deposition of chemical modifications into RNA is a crucial regulator of temporal and spatial accurate gene expression programs. A major difficulty in studying these modifications, however, is the need of tailored protocols to map each RNA modification individually. In this context, direct RNA nanopore sequencing (DRS) has emerged as a promising technology that can overcome these limitations, as it is in principle capable of mapping all RNA modifications simultaneously, in a quantitative manner, and in full-length native RNA reads. Here I will present the latest work on how we can use DRS to identify RNA modifications with single nucleotide and single molecule resolution, to then study the biological functions and dynamics of the epitranscriptome, their interplay with other regulatory layers, as well as to decipher how and why epitranscriptomic dysregulation is often associated to human disease.
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Eva Maria Novoa, Center for Genomic Regulation (CRG))
Laurent Mesnard, APHP Sorbonne UniversitéProf. Laurent Mesnard, is Head of the Intensive Care Nephrology Unit at Assistance Publique Hopitaux de Paris Tenon Hospital, Sorbonne University, Paris, and also a national coordinator for the French National plan of sequencing (PFMG2025) for rare adult kidney diseases. He co-coordinates the National Thrombotic Microangiopathies network (CNR-MAT). The team is located in Paris, uses short reads whole exome/genome sequencing for the clinical diagnosis of adult CKD. The Team also develops application for long-read sequencing technologies to accelerate clinical diagnosis for rare kidney diseases at their ICU admission. Another project (Allogenomics) aims the development of new metrics to evaluate the risk of chronic kidney graft failure and better allocation strategies for kidney Transplantation.
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Ivo Gut, Nanopore Sequencing of the Human Mitochondrial and other GenomesSince 2010 Director of the Centro Nacional de Analisis Genomico in Barcelona. 1999-2010 Associate Director of the Centre Nacional de Genotypage in Paris. 1996-1999 Group Leader at the Max-Planck Institute for Molecular Genetics in Berlin. Preceeded by 3 years as Research Fellow at the Imperial Cancer Research Fund in London and 3 years as Research Fellow at Harvard Medical School. PhD in Physical Chemistry from the University of Basel.
